Gaucher disease with communicating hydrocephalus and cardiac involvement
Clinical Cardiology, cilt.33, sa.1, 2010 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 33 Sayı: 1
- Basım Tarihi: 2010
- Doi Numarası: 10.1002/clc.20348
- Dergi Adı: Clinical Cardiology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Anahtar Kelimeler: D409H, Gaucher disease, Hydrocephalus, Valvular calcification
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery. © 2010 Wiley Periodicals, Inc.